Corneal abnormalities

Gene: ABCA3

Red List (low evidence)

ABCA3 (ATP binding cassette subfamily A member 3)
EnsemblGeneIds (GRCh38): ENSG00000167972
EnsemblGeneIds (GRCh37): ENSG00000167972
OMIM: 601615, Gene2Phenotype
ABCA3 is in 3 panels

3 reviews

Chris Campbell (GEL)

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.
Created: 3 Mar 2017, 10:14 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be red until further evidence.
Created: 22 Feb 2017, 10:22 a.m.
Comment on list classification: One publication reported identifying variants in this gene in 2 Chinese families and 5 sporadic patients. No in vitro or in vivo follow up of functional consquence of the missense variants reported. In silico predictions were reported and expression of ABCA3 was shown to be decreased in two patients with the disorder in family B compared to 3 unaffected individuals in the same family, but was not shown for all affected individuals compared to controls.
Created: 15 Feb 2017, 5:41 p.m.

Chris Campbell (NHS)

Green List (high evidence)

Recessive mutations associated with dysfunction of surfactant metabolism
Created: 7 Feb 2017, 5:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
AD Cataract-microcornea syndrome; AR mutations in dysfunction of surfactant metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • GDL Corneal Abnormalities panel
Phenotypes
  • Cataract-microcornea syndrome
OMIM
601615
Clinvar variants
Variants in ABCA3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Red List (Low Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

2 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Chris Campbell (GEL)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

15 Feb 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ABCA3 were set to Cataract-microcornea syndrome

15 Feb 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ABCA3 were set to AD Cataract-microcornea syndrome

15 Feb 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ABCA3 were set to AD Cataract-microcornea syndrome; AR mutations in dysfunction of surfactant metabolism

15 Feb 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ABCA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Feb 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ABCA3 were set to 25406294

19 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ABCA3 was created by ellenmcdonagh

19 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCA3 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel